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| Gene | ATR |
| Variant | L2593I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATR mutant ATR L2593I |
| Transcript | NM_001184.4 |
| gDNA | chr3:g.142449587G>T |
| cDNA | c.7777C>A |
| Protein | p.L2593I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001184 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
| NM_001184.4 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
| NM_001184.3 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATR L2593I | unknown |